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RBM48 RNA binding motif protein 48 [ Homo sapiens (human) ]

Gene ID: 84060, updated on 3-Apr-2024

Summary

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Official Symbol
RBM48provided by HGNC
Official Full Name
RNA binding motif protein 48provided by HGNC
Primary source
HGNC:HGNC:21785
See related
Ensembl:ENSG00000127993 AllianceGenome:HGNC:21785
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C7orf64; HSPC304
Summary
Predicted to enable RNA binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 2.5), brain (RPKM 2.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92528795..92540481)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93770072..93781758)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92158109..92169795)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92105944-92106445 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene family with sequence similarity 133 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264 Neighboring gene uncharacterized LOC105375397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18373

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing. Siebert AE, et al. Genetics, 2022 Sep 30. PMID 36040194, Free PMC Article
  2. Structure of the activated human minor spliceosome. Bai R, et al. Science, 2021 Mar 19. PMID 33509932
  3. High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities. Hart T, et al. Cell, 2015 Dec 3. PMID 26627737
  4. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Goehler H, et al. Mol Cell, 2004 Sep 24. PMID 15383276
  5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.
    Title: Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC16142, DKFZP564O0523, DKFZp686D1651

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of spliceosomal complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
RNA-binding protein 48
Names
UPF0712 protein C7orf64

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363366.1 → NP_001350295.1  RNA-binding protein 48 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005156, BC044570, BX113088
    UniProtKB/TrEMBL
    Q6FI77
    Conserved Domains (1) summary
    cd12442
    Location:36 → 135
    RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

  2. NM_001363367.1 → NP_001350296.1  RNA-binding protein 48 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005156, AC007566, BC044570, BX113088, DC319375

  3. NM_032120.4 → NP_115496.2  RNA-binding protein 48 isoform 1

    See identical proteins and their annotated locations for NP_115496.2

    Status: VALIDATED

    Source sequence(s)
    AC005156, BC044570, BX113088
    Consensus CDS
    CCDS43615.1
    UniProtKB/Swiss-Prot
    B7Z2K5, B7ZL51, Q5H9T2, Q5RL73, Q8IYW7, Q96NS0, Q9H0V7
    UniProtKB/TrEMBL
    Q6FI77
    Related
    ENSP00000265732.5, ENST00000265732.10
    Conserved Domains (1) summary
    cd12442
    Location:36 → 135
    RRM_RBM48; RNA recognition motif (RRM) found in RNA-binding protein 48 (RBM48) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92528795..92540481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716149.5 → XP_006716212.1  RNA-binding protein 48 isoform X2

    UniProtKB/TrEMBL
    Q6FI77
    Conserved Domains (1) summary
    cd12442
    Location:36 → 135
    RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

  2. XM_005250636.6 → XP_005250693.1  RNA-binding protein 48 isoform X1

    See identical proteins and their annotated locations for XP_005250693.1

    UniProtKB/TrEMBL
    Q6FI77
    Related
    ENSP00000419242.1, ENST00000481551.5
    Conserved Domains (1) summary
    cd12442
    Location:36 → 135
    RRM_RBM48; RNA recognition motif in RNA-binding protein 48 (RBM48) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93770072..93781758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359197.1 → XP_054215172.1  RNA-binding protein 48 isoform X2

  2. XM_054359196.1 → XP_054215171.1  RNA-binding protein 48 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032763.1: Suppressed sequence

    Description
    NM_032763.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.

  2. NR_026902.1: Suppressed sequence

    Description
    NR_026902.1: This RefSeq was removed because it is primarily UTR sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5RL73.1 GenPept UniProtKB/Swiss-Prot:Q5RL73

Gene LinkOut

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